Doctor insights on:
Does Being Very Tall Mean You Have Marfan Syndrome
Not Necessarily: But it is possible. A visit to the doctor with that question in mind should provide the answer. ...Read more
Does a person have to be tall to be diagnosed with Marfan Syndrome? How often does it occur in average height or shorter people?
No,: Marfan's is diagnosed using major and minor criteria: major (enlarged aorta/ tear, dislocation of lens of the eye, specific skeletal abnormalities, dural ectasia. Minor (myopia, stretch marks, loose joints, arched palate, long thin face) if family history is positive, you need to have 1 major and one minor criteria. If no family history you need 2 major and 1 minor criteria/ different parts /body. ...Read more
How do you tell the difference between someone with Marfan syndrome and someone who's just skinny and tall for example someone who's 5, 8" and weigh 108?
I'm f, 5'6 (tall), thin, long arms&legs, hands r big w/long fingers &are flexible, but my body is not flexible, narrow face&jaw, do I have Marfan syndrome?
Marfan syndrome is a connective tissue disorder, tissues that strengthen bodies structures.
In most cases it is inherited condition, but approx 30% of patients have no family history
tall arms and height, affects lungs, heart and aorta, eyes causing cataract, skin problems, and tissue covering the spinal chord. ...Read more
Genetic mutation: Marfan syndrome is caused by a gene mutation (in the fbn1 gene). A mutation leads to defective, weakened connective tissue throughout the body. Symptoms show up in the parts of the body where shape and structural integrity relies a lot on the weakened type of connective tissue. ...Read more
Genetic disorder: Fbn1 gene controls connective tissue metabolism. If there are mutations or repeats, then marfa's will result. The symptoms are the result of malformed collagen. So dislocated lens in eye, heart valve problems, scoliosis, pneumothorax, artery problems may occur. Most cases are inherited, but occasionally marfan's occurs from a spontaneous mutation. This gene can be tested for in a blood specimen. ...Read more
See the details: If you are tall, have very flexible joints, have any issues with the lenses of your eyes as well as other numerous finding on exam, you may have it. Have your doctor take a look or refer you to a rheumatologist. ...Read more
Www. Marfan. Org: Fibrillin-1 gene defect leads to inefficient connective tissue building. It is inherited 70% of time. Symptoms occur in any organ that is dependent on healthy connective tissue such as the heart, lungs, skin, eyes. Marfans are tall people with thin narrow face, scoliosis, heart disease, small jaw, spidery fingers, flat feet, abnornal chest bone. You should see your dr if you suspect having it. ...Read more
Long arms, fingers:
Tall, thin appearance. Pigeon chest (pectus carinatum), long fingers (arachnodactyly), dilated aorta (seen on echocardiogram). Dislocated lens in the eye. Severe near sightedness. Scoliosis. Flat feet. High arched palate. Thin head with small cheekbones.
Most symptoms involve heart, musculoskeletal and eyes. It is inherited in an autosomal dominant fashion. ...Read more
Having the features: Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... A person with several of these features can see a doctor for evaluation. ...Read more
Maybe not: A Marfan syndrome woman has a 50% chance of having a Marfan syndrome baby, if the father of the baby is "normal". During pregnancy, the woman needs close monitoring because she is at increased risk of rupturing her aorta (often fatal). For these reasons, she may not want to become pregnant. ...Read more
See a geneticist: There are many options for genetic testing for Marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more
Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more
Varies by severity: People with mild Marfan syndrome symptoms probably live a pretty normal lifespan. Those with severe symptoms can die from heart valve problems, rupture of the aorta, tension pneumothorax, etc..., before they reach old age. Of course, those with moderate symptoms will have a lifespan in between. ...Read more
Doctors can evaluate: A person who may have Marfan syndrome should see his doctor and a geneticist to confirm the diagnosis. If confirmed, he can get more information from the national Marfan foundation website. He should also see specialists, such as a cardiologist to check the heart and aorta, an ophthalmologist to check the eyes, etc... He can notify his relatives to check their aortas, etc... ...Read more
Over-exertion is bad: Marfan syndrome persons should avoid contact sports. If symptoms are on the moderate to severe side, they can participate in non-contact, non-strenguous activities such as golf, bowling, walking, yoga, or tai-chi. If mild to moderate in severity, they can try non-contact, moderately strenguous activities such as biking or swimming. The national Marfan foundation website is helpful. ...Read more
Usually yes: A Marfan syndrome person with a current or recent pneumothorax (collapsed lung) should not fly (unless the airplane stays close to his airport's altitude) because the decrease in outside air pressure as the airplane ascends can allow his pneumothorax to enlarge and compress the lungs and heart. ...Read more
Marfans: A karyotype of someone with Marfan's Syndrome would look no different than a normal karyotype. That is because Marfan's is caused by as little as one mutation to one gene (fibrillin-1), and this mutation would not be visible in a karyotype. It is a dominant trait and if one parent is affected, it may be passed to their child. ...Read more
Varies: Sometimes a diagnosis of marfan's syndrome can be obvious from birth. In most cases, the features (long fingers and toes, angular face), take longer to see. Sometimes it isn't picked up until the person has an aortic dissection or vision problems the lens of the eye is affected. ...Read more
It is a broad topic. Difficult to cover here. Please refer to the site:
http://en. Wikipedia. Org/wiki/marfan_syndrome. ...Read more
PossibleI: While anything is possible, it's doubtful.Get a more detailed answer ›
Genetic disease: Marfan syndrome is a genetic disease affecting the "connective tissue" in the body, with effects in various organ system. True Marfan syndrome is caused by a mutation in the fibrillin-1 gene, located on chromosome 15. Inheritance is autosomal dominant, and it appears that about 25% are spontaneous mutations. Serious effects on the structure and function of the heart, aorta, eyes, and bones. ...Read more
Non-strenguous: Marfan syndrome persons should avoid contact sports. If symptoms are on the moderate to severe side, they can participate in non-contact, non-strenguous activities such as golf, bowling, walking, yoga, or tai-chi. If mild to moderate in severity, they can try non-contact, moderately strenguous activities such as biking or swimming. The national Marfan foundation website is helpful. ...Read more
Quite varied...: Marfan syndrome is an inherited disorder that affects connective tissue. Symptoms can include: tall and slender build; disproportionately long arms, legs, fingers and toes; a breastbone that protrudes outward or dips inward; a high, arched palate and crowded teeth; heart murmurs; extreme nearsightedness; an abnormally curved spine; or flat feet. ...Read more
Sure: Here you are: http://www. Marfan. Org/about/marfan.Get a more detailed answer ›
Rarely: Occasionally, a person with Marfan syndrome will have normal height, but the majority of people with Marfan syndrome tall. Even if people with Marfan syndrome who have normal height, there long bones tend to be longer than typical, resulting in longer than typical arms, legs, and fingers. ...Read more
Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website). ...Read more
Build a team: Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national Marfan foundation. Their website has a section written especially for someone like you: http://www. Marfan. Org/marfan/2406/diagnosis#suspect. ...Read more